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A Rare Case of Neuromyelitis Optica Spectrum Disorder Secondary to Primary Sjögren's Syndrome in an Older Woman. 一名老年妇女继发于原发性斯约格伦综合征的神经脊髓炎谱系障碍罕见病例。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2024-01-01 DOI: 10.14712/23362936.2024.21
Hasan Huseyin Zorlu, Suleyman Emre Kocyigit

Primary Sjögren's syndrome is an autoimmune disorder that is characterized by lymphocytic infiltration of salivary and lacrimal glands. The extra-glandular manifestations might be arthritis, myalgia, glomerulonephritis, skin rashes, and neurologic involvement. One of the uncommon neurologic manifestations is neuromyelitis optica spectrum disorder (NMOSD). In the present case, an older woman is reported that was diagnosed with NMOSD secondary to keratoconjunctivitis sicca, which is rare in geriatric practice.

原发性斯约格伦综合征是一种以唾液腺和泪腺淋巴细胞浸润为特征的自身免疫性疾病。腺外表现可能是关节炎、肌痛、肾小球肾炎、皮疹和神经系统受累。神经脊髓炎视神经谱系障碍(NMOSD)是其中一种不常见的神经系统表现。在本病例中,一名老年妇女被诊断为继发于角膜结膜炎的神经脊髓炎视网膜频谱障碍(NMOSD),这在老年医学中十分罕见。
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引用次数: 0
Janus Kinase Inhibitors in the Treatment of Alopecia Areata. Janus激酶抑制剂治疗斑秃。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.1
Athanasios J Stefanis

Alopecia areata is a disease of autoimmune origin which causes non scarring hair loss. The extent of alopecia varies from a small patch to complete scalp and body hair loss, which can have huge psychosocial impact for those affected. Treatment modalities which have been used so far included nonspecific immunosuppressive medications, such as corticosteroids, cyclosporine, and methotrexate, or topical immunomodulators, such as diphencyprone, dithranol, and squaric acid dibutylester. The recognition of the importance of Janus kinase pathway in alopecia areata pathogenesis enabled more specific approaches in treatment. Positive outcomes of Janus kinase inhibitors in several trials granted approval for baricitinib which became the first on-label treatment for alopecia areata. The aim of this review is to summarize the role, efficacy and safety of several Janus kinase inhibitors in alopecia areata.

斑秃是一种自身免疫性疾病,引起非瘢痕性脱发。脱发的范围从一小块到整个头皮和全身脱发不等,这可能对患者产生巨大的心理社会影响。迄今为止使用的治疗方式包括非特异性免疫抑制药物,如皮质类固醇、环孢素和甲氨蝶呤,或局部免疫调节剂,如苯二苯、二乙醇和方酸二丁酯。认识到Janus激酶途径在斑秃发病机制中的重要性,使治疗方法更加具体。Janus激酶抑制剂在几项试验中的积极结果批准baricitinib成为首个标签治疗斑秃的药物。本文综述了几种Janus激酶抑制剂在斑秃中的作用、疗效和安全性。
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引用次数: 2
The Neuropsychiatric Aspect of the Chronic Viral Hepatitis. 慢性病毒性肝炎的神经精神病学方面。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.8
Tatyana Vasiliyevna Polukchi, Gulzhan Narkenovna Abuova, Yelena Alekseevna Slavko

Chronic viral hepatitis is a systemic disease characterized by a wide range of extrahepatic manifestations, such as cognitive impairment, chronic fatigue, sleep disorders, depression, anxiety and a decrease in quality of life. This article presents a summary of the main theories and hypotheses about the occurrence of cognitive impairment, features of treatment of patients with chronic viral hepatitis. Often, extrahepatic manifestations can outstrip the clinical manifestations of liver damage itself, which requires the use of additional diagnostic and treatment methods, and they can also significantly change the treatment tactics and prognosis of the disease. Changes in neuropsychological parameters and cognitive impairments are often recorded in patients with chronic viral hepatitis at stages characterized by the absence of significant liver fibrosis and liver cirrhosis. These changes usually occur regardless of the genotype of the infection and in the absence of structural damage to the brain. The purpose of this review is to study the main aspects of the formation of cognitive impairment in patients with chronic hepatitis, cirrhosis of viral etiology.

慢性病毒性肝炎是一种全身性疾病,以广泛的肝外表现为特征,如认知障碍、慢性疲劳、睡眠障碍、抑郁、焦虑和生活质量下降。本文就慢性病毒性肝炎认知功能障碍的发生、治疗特点等方面的主要理论和假设作一综述。肝外表现往往超过肝损害本身的临床表现,需要采用额外的诊断和治疗方法,也可以显著改变疾病的治疗策略和预后。慢性病毒性肝炎患者在没有明显肝纤维化和肝硬化的阶段经常记录神经心理参数和认知障碍的变化。这些变化通常与感染的基因型无关,也不会对大脑造成结构性损伤。本文综述的目的是研究慢性肝炎、肝硬化患者认知功能障碍形成的主要方面的病毒病因学。
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引用次数: 0
Vaping Associated Acute Eosinophilic Pneumonia: A Clinical and Radiologic Mimicker of COVID-19. Vaping相关急性嗜酸性肺炎:新冠肺炎的临床和放射学模拟。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.22
Alyssa Bonnier, Anum Nida, Woon Hean Chong, Santu Saha, Biplab K Saha

Acute eosinophilic pneumonia (AEP) is a rare cause of respiratory failure. It is primarily a disease of smokers, either a new smoker or an existing one with a recent increase in cigarette consumption. Other risk factors include toxic gas exposure, inhalational illicit drugs, and smoking marijuana. AEP has also been reported in patients with e-cigarette or vaping associated lung injury (EVALI). We present the case of a 20-year-old male who presented to the hospital with acute respiratory failure. The patient has been vaping heavily for the past three months and started smoking three days before presenting to the emergency department. He was hypertensive, tachycardic, tachypneic, and required high-flow nasal cannula to maintain SpO2 > 92%. His condition deteriorated in the first 24 hours following hospitalization requiring noninvasive positive pressure ventilation. Bronchoalveolar lavage revealed an eosinophil count of 36%. Bronchoalveolar lavage (BAL) cytology revealed lipid-laden macrophages. He was diagnosed with AEP due to EVALI, and the patient was treated with high dose corticosteroid with subsequent improvement. Before the bronchoscopic evaluation, the clinical and radiologic findings were consistent with COVID-19, and the patient was tested twice for SARS-CoV-2 PCR. In the appropriate clinical setting, AEP should be considered in the differential diagnoses of community-acquired pneumonia, acute respiratory distress syndrome (ARDS), and COVID-19, especially in this pandemic era.

急性嗜酸性粒细胞性肺炎(AEP)是一种罕见的呼吸衰竭原因。它主要是吸烟者的一种疾病,无论是新吸烟者还是最近吸烟量增加的现有吸烟者。其他风险因素包括接触有毒气体、吸入非法药物和吸食大麻。在电子烟或电子烟相关肺损伤(EVALI)患者中也有AEP的报道。我们报告一例20岁男性,因急性呼吸衰竭入院。在过去的三个月里,这位患者一直在大量吸食电子烟,并在去急诊科就诊前三天开始吸烟。他患有高血压、心动过速、呼吸急促,需要高流量鼻插管来维持SpO2>;92%。在需要无创正压通气的住院治疗后的前24小时内,他的病情恶化。支气管肺泡灌洗显示嗜酸性粒细胞计数为36%。支气管肺泡灌洗液(BAL)细胞学检查显示巨噬细胞携带脂质。他被诊断为EVALI引起的AEP,患者接受了高剂量皮质类固醇治疗,随后病情有所好转。支气管镜评估前,临床和放射学结果与新冠肺炎一致,患者接受了两次SARS-CoV-2 PCR检测。在适当的临床环境中,应在社区获得性肺炎、急性呼吸窘迫综合征(ARDS)和新冠肺炎的鉴别诊断中考虑AEP,尤其是在这个大流行时代。
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引用次数: 0
The Role of Demographic and Clinical Characteristics in Distinguishing Testicular Torsion from Torsion of the Appendix Testis: A Single-center Retrospective Study. 人口统计学和临床特征在区分睾丸扭转和附件睾丸扭转中的作用:一项单中心回顾性研究。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.20
Zlatan Zvizdic, Amila Aganovic, Emir Milisic, Asmir Jonuzi, Denisa Zvizdic, Semir Vranic

The acute scrotum (AS) in the pediatric population is a medical emergency. AS is usually caused by testicular torsion (TT) and torsion of the appendix testis (TAT). The current study explored which demographic and clinical characteristics can help distinguish between TT and TAT. We analyzed all children ≤16 years who underwent surgical exploration for AS. The patients were divided into Group 1/TT and Group 2/TAT. Ninety patients were included in the study (24 with TT and 66 with TAT). The peak incidence of TT was significantly higher than in the TAT group (p<0.001). Scrotal pain was more prevalent in the TAT group (p=0.02), whereas systemic signs (nausea/vomiting and abdominal pain) affected more frequently the TT patients (p=0.003 and p<0.001, respectively). The duration of symptoms was significantly longer in the TAT group (p<0.001). The duration of symptoms in the TT cohort significantly impacted the testicular salvage (p=0.008). Color Doppler ultrasound (CDUS) findings of absent/decreased testicular blood flow in the affected testis strongly favored the diagnosis of TT (p<0.001). The older age, shorter duration of symptoms, systemic signs, and CDUS findings can help distinguish between the two most common acute scrotum causes.

儿科人群中的急性阴囊(AS)是一种医疗紧急情况。AS通常由睾丸扭转(TT)和阑尾睾丸扭转(TAT)引起。目前的研究探讨了哪些人口统计学和临床特征可以帮助区分TT和TAT。我们分析了所有接受AS手术探查的≤16岁儿童。患者分为1/TT组和2/TAT组。90名患者被纳入研究(24名TT患者和66名TAT患者)。TT的峰值发生率显著高于TAT组(p<0.001)。TAT组的阴囊疼痛更为普遍(p=0.02),而全身症状(恶心/呕吐和腹痛)对TT患者的影响更为频繁(分别为p=0.003和p>0.001)。TAT组的症状持续时间明显更长(p<0.001)。TT队列中的症状持续期显著影响睾丸挽救(p=0.008)。彩色多普勒超声(CDUS)发现受影响睾丸中睾丸血流量缺失/减少强烈有利于TT的诊断(p<001)。年龄越大,症状持续时间越短,CDUS的发现可以帮助区分两种最常见的急性阴囊病因。
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引用次数: 0
Screening for SARS-COV-2 Using RT-qPCR in Patients with Hematologic Neoplasms Receiving Chemotherapy. 利用RT-qPCR技术筛查血液肿瘤化疗患者的SARS-COV-2
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.3
Ignacio Martín Santarelli, Mariela Sierra, Sofía Isabel Fernández

It has been recommended that patients with leukaemias and lymphomas undergo universal screening for SARS-COV-2 using RT-qPCR before each treatment on the grounds of their high risk of experiencing severe forms of COVID-19. This raises a conflict with different recommendations which prioritise testing symptomatic patients. We found that among 56 RT-qPCR obtained in asymptomatic patients with hematologic neoplasms before chemotherapy administration, 2 (3.5%) were positive. A negative result did not exclude SARS-COV-2 infection in 1 patient (1.8%). It is unclear what the benefit of screening for SARS-COV-2 using RT-qPCR in patients with hematologic neoplasms who receive chemotherapy is.

鉴于白血病和淋巴瘤患者患重症COVID-19的风险很高,建议在每次治疗前使用RT-qPCR对其进行SARS-COV-2普遍筛查。这与优先检测有症状患者的不同建议产生了冲突。我们发现,在化疗前无症状的血液肿瘤患者中获得的56例RT-qPCR中,2例(3.5%)为阳性。阴性结果不排除1例患者(1.8%)感染SARS-COV-2。目前尚不清楚在接受化疗的血液肿瘤患者中使用RT-qPCR筛查SARS-COV-2的好处是什么。
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引用次数: 0
Cord Herniation through the Site of Undiagnosed Thoracic Dermoid Tumour during Spinal Anaesthesia; Report of a Case and Describing Ways to Avoid. 脊髓麻醉过程中经未确诊胸皮样肿瘤部位的脊髓疝案例报告及避免方法描述。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.15
Mansour Parvaresh, Eshagh Bahrami, Sayedali Ahmadi, Arash Fattahi, Ali Farid

Spinal anaesthesia (SA) is one of the most prevalent types of anaesthetic procedures. There are very few reports of cord herniation through the site of spinal canal stenosis due to tumour. A 33-year-old female presented with acute paraparesis after spinal anaesthesia for caesarean section. Magnetic resonance imaging (MRI) revealed an intradural mass from posterior of T6 to T8-T9 interface. We operated the patient and after laminectomy of T6 to T9, dermoid tumour containing hairs was totally resected and cord was completely decompressed. After 6 months, the patient is without any neurological deficit. Puncturing the dura with cerebrospinal fluid (CSF) in the presence of an extramedullary mass could cause cord herniation through the blockade. In these cases, awareness about related signs even in absence of symptoms or complaints could help us to prevent post-SA neurological deficit.

脊髓麻醉(SA)是最普遍的麻醉程序之一。由于肿瘤导致椎管狭窄部位发生脊髓疝的报道很少。一例33岁女性患者在剖宫产术中脊髓麻醉后出现急性麻痹。磁共振成像(MRI)显示硬膜内肿块从T6后至T8-T9界面。我们对患者进行了手术,在T6至T9椎板切除术后,完全切除了包含毛发的皮样肿瘤,并完全减压。6个月后,患者没有任何神经功能障碍。在髓外肿块存在的情况下,用脑脊液(CSF)穿刺硬脑膜可通过阻塞引起脊髓疝。在这些病例中,即使没有症状或主诉,对相关体征的认识也可以帮助我们预防sa后神经功能障碍。
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引用次数: 0
Osteomyelitis and Thrombosis in a Newborn with Group A Streptococcus Infection. a组链球菌感染新生儿的骨髓炎和血栓形成。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.23
Georgios Mitsiakos, Dimitra Gialamprinou, Christos Tsakalidis, Evgenia Babatseva, Maria Lithoxopoulou, Elisavet Diamanti

Neonatal osteomyelitis (OM), although exceptionally rare, has been linked to detrimental sequel, as diagnosis in the early stages is challenging and any delay in treatment can lead to disturbance in skeletal growth. In pediatric OM the most commonly grown bacteria is Staphylococcus aureus followed by group A Streptococcus (GAS). Notwithstanding, sepsis-induced coagulopathy is a well-known entity in children and adults, still sepsis-associated thrombosis is sparsely observed. we present a case of a newborn with GAS associated OM and thrombosis. A term neonate on the 11th day of life was referred to our NICU due to right (R) lower limb edema, cyanosis and core temperature up to 39 °C. Late onset sepsis was suspected and started on vancomycin and amikacin. A colour Doppler scan showed thrombosis of the R common femoral vein. The neonate started on iv unfractionated heparin. Ampicillin was added given positive for GAS blood culture. An MRI on the 5th day of admission, showed evidence of thrombosis resolution. On the 14th day of admission, a bone Tc99 scan showed evidence of OM of R femur. Antibiotic treatment switched to amoxicillin per os. The management was restricted to anticoagulant therapy with low molecular weight heparin for 3 months and antibiotic therapy for 6 months without surgery intervention and the patient recovered and discharged at 42 days of age. Early diagnosis and treatment of neonatal osteomyelitis can prevent bone destruction. Sepsis-associated thrombosis is barely observed during osteomyelitis, yet it should be considered as an emerged case requiring prompt treatment.

新生儿骨髓炎(OM)虽然异常罕见,但与有害的后遗症有关,因为早期诊断具有挑战性,任何治疗延误都可能导致骨骼生长紊乱。在儿科OM中,最常见的细菌是金黄色葡萄球菌,其次是A组链球菌(GAS)。尽管败血症诱导的凝血病在儿童和成人中是一种众所周知的疾病,但与败血症相关的血栓形成仍然很少观察到。我们报告了一例新生儿GAS相关OM和血栓形成。一名足月新生儿在出生第11天因右下肢水肿、发绀和核心体温高达39°C而被转诊至新生儿重症监护室。怀疑是晚发性败血症,开始服用万古霉素和阿米卡星。彩色多普勒扫描显示R股总静脉血栓形成。新生儿开始静脉注射普通肝素。在GAS血液培养呈阳性的情况下添加氨苄青霉素。入院第5天的核磁共振成像显示血栓形成消退。入院第14天,骨Tc99扫描显示R股骨OM的证据。抗生素治疗改为口服阿莫西林。治疗仅限于低分子肝素抗凝治疗3个月和抗生素治疗6个月,无需手术干预,患者在42天大时康复出院。新生儿骨髓炎的早期诊断和治疗可以防止骨破坏。骨髓炎期间几乎没有观察到败血症相关的血栓形成,但应将其视为需要及时治疗的新病例。
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引用次数: 0
A Critical Analysis of the Magnetic Resonance Imaging Lesion Diameter Threshold for Adverse Pathology Features. 磁共振成像病变直径阈值对不良病理特征的关键分析。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.4
Yavuz Onur Danacioglu, Rustu Turkay, Omer Yildiz, Salih Polat, Yusuf Arikan, Hakan Polat, Mustafa Gurkan Yenice, Halil Firat Baytekin, Ercan Inci, Ali İhsan Tasci

To investigate the relationship between lesion size determined using multiparametric magnetic resonance imaging (mpMRI) and histopathological findings of specimens obtained after mpMRI fusion biopsy and radical prostatectomy (RP). We retrospectively analysed 290 patients with PCa who underwent an MRI fusion biopsy. We measured the diameter of suspicious tumour lesions on diffusion-weighted mpMRI and stratified the cohort into two groups. Group A included patients with a suspicious tumour lesion 10 mm and Group B included those with a suspicious tumour lesion > 10 mm. In Group B, the PI-RADS score determined in mpMRI was higher than Group A, and there was a statistically significant difference between the two groups in terms of clinical T-stage. The PCa detection rate and the number of positive cores were statistically significantly higher in Group B than in Group A. In addition, there was a statistically significant difference between the two groups in relation to the biopsy, the International Society of Urological Pathology (ISUP) grade values, and the presence of clinically significant PCa. In Group B, pathological T-stage and extraprostatic extension (EPE) and surgical margin (SM) positivity were found to be higher among the patients who underwent RP. In the multivariate analysis, the mpMRI lesion size being > 10 mm was found to be an independent predictive factor for SM and EPE positivity. The clinical results of this study support the modification of the lesion size threshold as 10 mm for use in the differentiation of PI-RADS scores 4 and 5.

探讨多参数磁共振成像(mpMRI)确定的病变大小与mpMRI融合活检和根治性前列腺切除术(RP)后标本的组织病理学结果之间的关系。我们回顾性分析了290例接受MRI融合活检的PCa患者。我们在弥散加权mpMRI上测量可疑肿瘤病变的直径,并将队列分为两组。A组为可疑肿瘤病变10 mm患者,B组为可疑肿瘤病变患者;10毫米。B组mpMRI检测PI-RADS评分高于A组,两组临床t分期差异有统计学意义。B组前列腺癌检出率、阳性核数均显著高于a组,两组活检、国际泌尿病理学会(ISUP)分级值、临床显著性前列腺癌存在情况差异均有统计学意义。B组RP患者病理t期、前列腺外展(EPE)和手术切缘(SM)阳性较高。在多变量分析中,mpMRI病变大小为>发现10mm是SM和EPE阳性的独立预测因子。本研究的临床结果支持将病变大小阈值修改为10 mm,用于PI-RADS评分4分和5分的区分。
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引用次数: 0
Analysis of the Causes of Newborn Priapism: A Retrospective Clinical Study. 新生儿阴茎勃起障碍原因分析:回顾性临床研究。
Q4 Biochemistry, Genetics and Molecular Biology Pub Date : 2023-01-01 DOI: 10.14712/23362936.2023.6
Ekrem Guner, Fatih Akkas, Osman Ozdemir, Yusuf Arikan, Kamil Gokhan Seker, Emre Sam

Priapism is a rare condition in the newborn. The aim of this study was to investigate the demographic, etiologic and clinical features of neonatal priapism. We retrospectively analysed the data of 11 patients diagnosed with neonatal priapism in the neonatal intensive care unit between 2000 and 2019. Priapism was defined as an erection in the neonatal period, lasting more than 4 hours. Etiological examinations revealed polycythemia in one (9.09%) patient, D-dimer elevation in three patients, and heterozygous methyltetrahydrofolate 667 gene mutations in one patient. Other patients were considered idiopathic. Detumescence was achieved in all 11 (100%) patients during the follow-up period. The median hospitalization duration was 6 (IQR [4, 8]; range, 2-9) days. The median follow-up duration was 38 (IQR [30, 42]; range, 13-94) months for patients followed-up in our hospital after discharge. Neonatal priapism is a rare condition. Successful treatment results can be achieved with conservative methods. Data acquired from our study showed that diseases with a tendency to hypercoagulation belong to the etiology by damaging penile microcirculation and make the response to conservative treatment more challenging.

阴茎勃起在新生儿中是一种罕见的疾病。本研究的目的是探讨新生儿阴茎勃起障碍的人口学、病因学和临床特征。我们回顾性分析了2000年至2019年在新生儿重症监护病房诊断为新生儿阴茎勃起障碍的11例患者的数据。阴茎勃起定义为新生儿期勃起,持续时间超过4小时。病因学检查显示1例(9.09%)患者有红细胞增多症,3例患者d -二聚体升高,1例患者有杂合甲基四氢叶酸667基因突变。其他患者被认为是特发性的。随访期间11例(100%)患者均消肿。中位住院时间为6 (IQR [4,8];范围:2-9天。中位随访时间为38 (IQR [30,42];出院后在我院随访13 ~ 94个月。新生儿阴茎异常勃起是一种罕见的疾病。采用保守治疗方法可获得成功的治疗效果。我们的研究数据表明,具有高凝倾向的疾病属于由破坏阴茎微循环引起的病因,这使得保守治疗的反应更具挑战性。
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引用次数: 0
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Prague medical report
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